orotic aciduria


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o·rot·ic ac·i·du·ri·a

(ōr-ot'ik as'i-dyu'rē-ă), [MIM*258900]
A rare disorder of pyrimidine metabolism characterized by hypochromic anemia with megaloblastic changes in bone marrow, leukopenia, retarded growth, and urinary excretion of orotic acid; autosomal recessive inheritance, caused by mutation in the uridine monophosphatate synthase gene (MMPS) on 3q13.
[orotic acid + G. ouron, urine]

orotic aciduria

A rare autosomal recessive disorder (OMIM:258900) of pyrimidine metabolism characterised by megaloblastic anaemia and orotic acid crystalluria, often associated with physical and mental retardation and, in some cases, congenital malformations and immune defects. 

Lab
Hypochromic anaemia with megaloblastic changes in bone marrow, decreased WBCs, increased orotic acid in urine.
 
Molecular pathology
Caused by defects of UMPS, which encodes uridine monophosphate synthetase, a bifunctional enzyme that catalyses the last two steps of pyrimidine synthesis.
References in periodicals archive ?
Orotic acid (ORA) is an important biochemical marker for uridine monophosphate synthase deficiency, an autosomal recessive disease characterized by macrocytic hypochromic megaloblastic anemia, growth retardation, orotic aciduria, and crystalluria (1).
No samples were available of patients with orotic aciduria type I or II.
The concentrations of the four characteristic metabolites in this disease varied considerably between the two patients, and orotic aciduria was present only in case 1.
Orotic aciduria is a more or less controversial finding in PNP deficiency.
Orotic aciduria in two unrelated patients with inherited deficiencies of purine nucleoside phosphorylase.
In the analysis of urine from patients with orotic acidurias caused by orotate phosphoribosyltransferase (EC 2.4.2.10) and ornithine transcarbamylase (EC 2.1.3.3) deficiency (data not shown), an easily identifiable but relatively broad peak of OA was observed.